Polioencephalopathy in Eurasier dogs

Abstract

AbstractBackgroundPolioencephalopathies secondary to inborn errors of metabolism have been described in dogs, but few genetically characterized.ObjectivesClinically and genetically characterize polioencephalopathy in a family of Eurasier dogs.AnimalsThree Eurasier dogs (littermates) presented with early onset movement disorders (9 weeks in 2, 4‐6 months in 1). Progressive gait abnormalities were detected in 2 of the dogs, persistent divergent strabismus in 1, whereas consciousness and behavior remained intact in all dogs. One dog was euthanized at 25 months.MethodsVideo footage was assessed in all dogs, and Dogs 1 and 2 had examinations and investigations performed. Whole genome sequencing of Dog 1 and further genetic analyses in the family were performed. A cohort of 115 Eurasier controls was genotyped for specific variants.ResultsEpisodes were characterized by generalized ataxia, as well as a hypermetric thoracic limb gait, dystonia, and irregular flexion and extension movements of the thoracic limbs. Magnetic resonance imaging of the brain in Dogs 1 and 2 identified symmetrical, bilateral T2 and fluid attenuated inversion recovery hyperintense, T1 hypo to isointense, nonenhancing lesions of the caudate nucleus, lateral and medial geniculate nuclei, thalamus, hippocampus, rostral colliculus and mild generalized brain atrophy. Genetic analyses identified a homozygous mitochondrial trans‐2‐enoyl‐CoA reductase (MECR) missense variant in all 3 dogs, and a homozygous autophagy‐related gene 4D (ATG4D) missense variant in Dogs 1 and 2.Conclusions and Clinical ImportanceWe describe a presumed hereditary and progressive polioencephalopathy in a family of Eurasier dogs. Further research is needed to establish the role of the MECR gene in dogs and the pathogenic effects of the detected variants.